R285K (p.Arg285Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R285K (p.Arg285Lys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 2; Angelman syndrome-l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
R285K (p.Arg285Lys) variant details
- p.Arg285Lys
- rs1064795672
- ClinGen CA16621272
- ClinVar RCV000481012
- ClinVar RCV001244046
- Pathogenic/Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 2; Angelman syndrome-l
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 2; Ang)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)